A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5742047



Internal ID8719450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:146067166..149056480hg38UCSC Ensembl
Outerchr1:146067131..149056514hg38UCSC Ensembl
Innerchr1:144827960..145367836hg19UCSC Ensembl
Outerchr1:144827926..145367871hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg382989384
hg19539946
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666358
Supporting Variants
SamplesNA19734
Known GenesLOC100288142, LOC101929780, NBPF10, NBPF8, NBPF9, NOTCH2NL, PDE4DIP, SEC22B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5742047
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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